ClinVar Miner

List of variants reported as benign for RAB23-related Carpenter syndrome

Included ClinVar conditions (1):
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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_004282.4(BAG2):c.*4531G>A rs9382689 0.26771
NM_004282.4(BAG2):c.*3998A>G rs12211901 0.15833
NM_004282.4(BAG2):c.*2941T>C rs72868608 0.14761
NM_016277.5(RAB23):c.619G>A (p.Gly207Ser) rs1040461 0.11850
NM_004282.4(BAG2):c.*3846C>T rs62415930 0.03322
NM_004282.4(BAG2):c.*3786T>C rs16888376 0.01354
NM_004282.4(BAG2):c.*5460C>T rs16888378 0.01316
NM_016277.5(RAB23):c.301T>G (p.Ser101Ala) rs45479896 0.00589
NM_016277.5(RAB23):c.-23C>T rs145059995 0.00424
NM_016277.5(RAB23):c.218C>T (p.Ala73Val) rs556931606 0.00001

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